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| | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_043963 | Polymorphism | p.ALA1021ASP | N/A | Swiss-Prot | VAR_067294 | Polymorphism | p.ALA25SER | N/A | Swiss-Prot | VAR_043943 | Disease | p.ALA20VAL | Hereditary non-polyposis colorectal cancer 5 (HNPCC5) | Swiss-Prot | VAR_038033 | Polymorphism | p.ALA25VAL | N/A | Swiss-Prot | VAR_067295 | Polymorphism | p.ALA326VAL | N/A | Swiss-Prot | VAR_043959 | Polymorphism | p.ALA787VAL | N/A | Swiss-Prot | VAR_043965 | Polymorphism | p.ARG1076CYS | N/A | Swiss-Prot | VAR_043957 | Polymorphism | p.ARG772GLN | N/A | Swiss-Prot | VAR_038041 | Polymorphism | p.ARG1321GLY | N/A | Swiss-Prot | VAR_043966 | Polymorphism | p.ARG1095HIS | N/A | Swiss-Prot | VAR_038035 | Polymorphism | p.ARG468HIS | N/A | Swiss-Prot | VAR_043962 | Polymorphism | p.ARG901HIS | N/A | Swiss-Prot | VAR_012965 | Polymorphism | p.ARG976HIS | N/A | Swiss-Prot | VAR_043946 | Polymorphism | p.ARG128LEU | N/A | Swiss-Prot | VAR_043958 | Disease | p.ARG772TRP | Hereditary non-polyposis colorectal cancer 5 (HNPCC5) | Swiss-Prot | VAR_012962 | Polymorphism | p.ASP803GLY | N/A | Swiss-Prot | VAR_067297 | Polymorphism | p.ASP1026TYR | N/A | Swiss-Prot | VAR_043964 | Polymorphism | p.ASP1031VAL | N/A | Swiss-Prot | VAR_004491 | Polymorphism | p.ASP1213VAL | N/A | Swiss-Prot | VAR_043968 | Polymorphism | p.CYS1158ARG | N/A | Swiss-Prot | VAR_043951 | Polymorphism | p.GLN522ARG | N/A | Swiss-Prot | VAR_012960 | Polymorphism | p.GLN698GLU | N/A | Swiss-Prot | VAR_012956 | Polymorphism | p.GLU220ASP | N/A | Swiss-Prot | VAR_042274 | Polymorphism | p.GLU221ASP | N/A | Swiss-Prot | VAR_043952 | Polymorphism | p.GLU619ASP | N/A | Swiss-Prot | VAR_038040 | Polymorphism | p.GLU1234GLN | N/A | Swiss-Prot | VAR_043970 | Polymorphism | p.GLU1193LYS | N/A | Swiss-Prot | VAR_043969 | Disease | p.GLU1163VAL | Hereditary non-polyposis colorectal cancer 5 (HNPCC5) | Swiss-Prot | VAR_043944 | Polymorphism | p.GLY54ALA | N/A | Swiss-Prot | VAR_043954 | Polymorphism | p.GLY685ALA | N/A | Swiss-Prot | VAR_012959 | Polymorphism | p.GLY566ARG | N/A | dbSNP | rs1042821 | Polymorphism | p.GLY39GLU | N/A | Swiss-Prot | VAR_043972 | Polymorphism | p.HIS1248ASP | N/A | Swiss-Prot | VAR_043955 | Polymorphism | p.ILE725MET | N/A | Swiss-Prot | VAR_014902 | Polymorphism | p.ILE886VAL | N/A | Swiss-Prot | VAR_043974 | Polymorphism | p.LEU1354GLN | N/A | Swiss-Prot | VAR_068710 | Polymorphism | p.LEU435PRO | N/A | Swiss-Prot | VAR_043949 | Polymorphism | p.LEU449PRO | N/A | Swiss-Prot | VAR_068711 | Polymorphism | p.LEU585PRO | N/A | Swiss-Prot | VAR_012958 | Polymorphism | p.LEU396VAL | N/A | Swiss-Prot | VAR_043947 | Polymorphism | p.LYS295ARG | N/A | Swiss-Prot | VAR_067296 | Polymorphism | p.LYS610ASN | N/A | Swiss-Prot | VAR_043945 | Polymorphism | p.LYS99ASN | N/A | Swiss-Prot | VAR_043961 | Polymorphism | p.LYS854MET | N/A | Swiss-Prot | VAR_038032 | Polymorphism | p.LYS13THR | N/A | Swiss-Prot | VAR_043956 | Polymorphism | p.LYS728THR | N/A | Swiss-Prot | VAR_042275 | Polymorphism | p.MET492VAL | N/A | Swiss-Prot | VAR_043948 | Polymorphism | p.PHE340SER | N/A | Swiss-Prot | VAR_029244 | Polymorphism | p.PRO623ALA | N/A | Swiss-Prot | VAR_043953 | Polymorphism | p.PRO623LEU | N/A | Swiss-Prot | VAR_067298 | Polymorphism | p.PRO1087SER | N/A | Swiss-Prot | VAR_012966 | Polymorphism | p.PRO1087THR | N/A | Swiss-Prot | VAR_038036 | Polymorphism | p.SER503CYS | N/A | Swiss-Prot | VAR_012955 | Polymorphism | p.SER144ILE | N/A | Swiss-Prot | VAR_012957 | Polymorphism | p.SER285ILE | N/A | Swiss-Prot | VAR_038038 | Polymorphism | p.SER580LEU | N/A | Swiss-Prot | VAR_038034 | Polymorphism | p.SER65LEU | N/A | Swiss-Prot | VAR_068712 | Polymorphism | p.SER677THR | N/A | Swiss-Prot | VAR_043971 | Polymorphism | p.THR1219ILE | N/A | Swiss-Prot | VAR_043967 | Polymorphism | p.THR1100MET | N/A | Swiss-Prot | VAR_067299 | Polymorphism | p.THR1225MET | N/A | Swiss-Prot | VAR_043973 | Polymorphism | p.THR1284MET | N/A | Swiss-Prot | VAR_012963 | Polymorphism | p.TYR850CYS | N/A | Swiss-Prot | VAR_038037 | Polymorphism | p.TYR538SER | N/A | Swiss-Prot | VAR_043950 | Polymorphism | p.VAL509ALA | N/A | Swiss-Prot | VAR_043960 | Polymorphism | p.VAL800ALA | N/A | dbSNP | rs2020912 | Polymorphism | p.VAL878ALA | N/A | Swiss-Prot | VAR_004492 | Polymorphism | p.VAL1260ILE | N/A | Swiss-Prot | VAR_038039 | Polymorphism | p.VAL1232LEU | N/A | Swiss-Prot | VAR_012961 | Polymorphism | p.VAL800LEU | N/A | OMIM | 600678.0012 | Disease | p.TRP1024TER | MISMATCH REPAIR CANCER SYNDROME||COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, INCLUDED | OMIM | 600678.0006 | Disease | p.VAL878ALA | COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
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